Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP868162.RAG_fXXaTpLns8IsrTWFBcXEjNzaRVsbZU9v4LDUdE9p0130_assertion> ?p ?o ?g. }
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- NP868162.RAG_fXXaTpLns8IsrTWFBcXEjNzaRVsbZU9v4LDUdE9p0130_assertion type Assertion NP868162.RAG_fXXaTpLns8IsrTWFBcXEjNzaRVsbZU9v4LDUdE9p0130_head.
- NP868162.RAG_fXXaTpLns8IsrTWFBcXEjNzaRVsbZU9v4LDUdE9p0130_assertion description "[A translocation between Xq21.33 and 22q13.33 causes an intragenic SHANK3 deletion in a woman with Phelan-McDermid syndrome and hypergonadotropic hypogonadism.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP868162.RAG_fXXaTpLns8IsrTWFBcXEjNzaRVsbZU9v4LDUdE9p0130_provenance.
- NP868162.RAG_fXXaTpLns8IsrTWFBcXEjNzaRVsbZU9v4LDUdE9p0130_assertion evidence source_evidence_literature NP868162.RAG_fXXaTpLns8IsrTWFBcXEjNzaRVsbZU9v4LDUdE9p0130_provenance.
- NP868162.RAG_fXXaTpLns8IsrTWFBcXEjNzaRVsbZU9v4LDUdE9p0130_assertion SIO_000772 21271662 NP868162.RAG_fXXaTpLns8IsrTWFBcXEjNzaRVsbZU9v4LDUdE9p0130_provenance.
- NP868162.RAG_fXXaTpLns8IsrTWFBcXEjNzaRVsbZU9v4LDUdE9p0130_assertion wasDerivedFrom befree-2016 NP868162.RAG_fXXaTpLns8IsrTWFBcXEjNzaRVsbZU9v4LDUdE9p0130_provenance.
- NP868162.RAG_fXXaTpLns8IsrTWFBcXEjNzaRVsbZU9v4LDUdE9p0130_assertion wasGeneratedBy ECO_0000203 NP868162.RAG_fXXaTpLns8IsrTWFBcXEjNzaRVsbZU9v4LDUdE9p0130_provenance.